Product Details

SNP ID

rs200178876

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:93101540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAAAAGTTCTTGGACTTTTTCCT[A/C]CTTCCACACATCTCCACTCTGCCAC

Phenotype

MIM: 610456

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SAMD9 PubMed Links

Gene Details

Gene

SAMD9

Gene Name

sterile alpha motif domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193307.1	4727	Nonsense Mutation	GAG,TAG	E1520*	NP_001180236.1
NM_017654.3	4727	Nonsense Mutation	GAG,TAG	E1520*	NP_060124.2

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